Canonical Allele Identifier: CA8214273

Gene: GSE1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.85654922C>T , CM000678.2:g.85654922C>T	GRCh38
NC_000016.9:g.85688528C>T , CM000678.1:g.85688528C>T	GRCh37
NC_000016.8:g.84246029C>T	NCBI36
NG_054715.1:g.490411C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014615.5:c.728C>T MANE Select	NP_055430.1:p.Pro243Leu
ENST00000253458.12:c.728C>T MANE Select	ENSP00000253458.6:p.Pro243Leu
NM_001134473.2:c.416C>T	NP_001127945.1:p.Pro139Leu
NM_001134473.3:c.416C>T	NP_001127945.1:p.Pro139Leu
NM_001278184.1:c.509C>T	NP_001265113.1:p.Pro170Leu
NM_001278184.2:c.509C>T	NP_001265113.1:p.Pro170Leu
NM_001278184.3:c.509C>T	NP_001265113.1:p.Pro170Leu
NM_014615.3:c.728C>T	NP_055430.1:p.Pro243Leu
NM_014615.4:c.728C>T	NP_055430.1:p.Pro243Leu
ENST00000253458.11:c.728C>T	ENSP00000253458.6:p.Pro243Leu
ENST00000393243.5:c.509C>T	ENSP00000376934.1:p.Pro170Leu
ENST00000405402.6:c.416C>T	ENSP00000384839.2:p.Pro139Leu
ENST00000411612.5:c.416C>T	ENSP00000409006.1:p.Pro139Leu
ENST00000412692.5:c.148C>T
XM_005255859.3:c.2312C>T	XP_005255916.2:p.Pro771Leu
XM_005255859.5:c.2852C>T	XP_005255916.3:p.Pro951Leu
XM_005255860.2:c.2312C>T	XP_005255917.2:p.Pro771Leu
XM_005255860.3:c.2852C>T	XP_005255917.3:p.Pro951Leu
XM_005255861.3:c.2093C>T	XP_005255918.2:p.Pro698Leu
XM_005255861.5:c.2633C>T	XP_005255918.3:p.Pro878Leu
XM_005255862.2:c.2312C>T	XP_005255919.2:p.Pro771Leu
XM_005255863.3:c.764C>T	XP_005255920.1:p.Pro255Leu
XM_005255863.4:c.764C>T	XP_005255920.1:p.Pro255Leu
XM_005255864.3:c.758C>T	XP_005255921.1:p.Pro253Leu
XM_005255864.4:c.758C>T	XP_005255921.1:p.Pro253Leu
XM_005255865.3:c.539C>T	XP_005255922.1:p.Pro180Leu
XM_005255865.4:c.539C>T	XP_005255922.1:p.Pro180Leu
XM_011522965.1:c.836C>T	XP_011521267.1:p.Pro279Leu
XM_011522965.3:c.836C>T	XP_011521267.1:p.Pro279Leu
XM_011522966.1:c.719C>T	XP_011521268.1:p.Pro240Leu
XM_011522966.3:c.719C>T	XP_011521268.1:p.Pro240Leu
XM_011522967.1:c.545C>T	XP_011521269.1:p.Pro182Leu
XM_017023083.1:c.719C>T	XP_016878572.1:p.Pro240Leu